Abstract：
PURPOSE:Mutations in the genes that control cell proliferation in cutaneous melanoma are generally uncommon in uveal melanoma. Despite the absence of known activating mutations, the RAF-MEK-ERK, or mitogen-activated protein kinase (MAPK), pathway is usually activated in uveal melanoma. An assay with increased potential to identify mutations is now available, and this study was therefore conducted to reanalyze uveal melanoma cell lines and primary tumors for this mutation. METHODS:Eleven uveal melanoma cell lines and 45 primary uveal melanomas were analyzed for mutations in exon 15 of the B-RAF gene by using pyrophosphorolysis-activated polymerization (PAP). Mutations were validated by sequencing of the PAP product. RESULTS:B-RAF mutations were detected in cell lines OCM-1 and -3 (V600E) and in six primary uveal melanomas. The V600K mutation was detected in one primary uveal melanoma, for which the V600E assay turned out to be sensitive as well. Direct sequencing of the exon 15 PCR product did not reveal the mutations found with the PAP-assay, indicating a low frequency of the mutant allele in primary samples. CONCLUSIONS:Because of the very sensitive PAP technology, B-RAF mutations were found in cell lines and primary uveal melanomas, which suggests that they may occasionally play a role in the activation of the MAPK pathway in uveal melanoma and indicates a higher prevalence of B-RAF mutations in uveal melanoma than was reported earlier. However, the relative scarcity of the B-RAF mutation excludes an elemental role for this mutation in uveal melanoma.
journal_name
Invest Ophthalmol Vis Scijournal_title
Investigative ophthalmology & visual scienceauthors
Maat W,Kilic E,Luyten GP,de Klein A,Jager MJ,Gruis NA,Van der Velden PAdoi
10.1167/iovs.07-0722subject
Has Abstractpub_date
2008-01-01 00:00:00pages
23-7issue
1eissn
0146-0404issn
1552-5783pii
49/1/23journal_volume
49pub_type
杂志文章abstract：PURPOSE:To investigate the effect of ABCA4 mutation status on lipofuscin-related quantitative autofluorescence (qAF) in humans and on bisretinoid accumulation in mice. METHODS:Genotyped parents (n = 26; age 37-64 years) of patients with biallelic ABCA4-related retinopathy underwent in-depth retinal phenotyping includi...
journal_title：Investigative ophthalmology & visual science
pub_type： 杂志文章
doi：10.1167/iovs.15-17629
更新日期：2015-12-01 00:00:00
abstract：PURPOSE:The pattern electroretinogram (PERG) is reduced in early glaucoma and in some eyes with ocular hypertension (OHT). This study was designed to test the ability of the PERG to predict the development of visual field loss in OHT eyes. METHODS:In 29 eyes of 18 patients with high-risk OHT, the visual fields were te...
journal_title：Investigative ophthalmology & visual science
pub_type： 杂志文章
doi：
更新日期：1993-04-01 00:00:00
abstract：PURPOSE:To evaluate the serum fatty acid changes in Chinese patients with Bietti crystalline dystrophy (BCD) in association with CYP4V2 mutation. METHODS:Sixteen Chinese patients with BCD confirmed with CYP4V2 mutation were recruited. Peripheral venous blood was obtained after fasting and serum fatty acid concentratio...
journal_title：Investigative ophthalmology & visual science
pub_type： 杂志文章
doi：10.1167/iovs.09-3665
更新日期：2010-02-01 00:00:00
abstract：PURPOSE:To assess the strength of the association between retinal nerve fiber layer (RNFL) thickness and optic disc topography measured with confocal retinal tomography (HRT II; Heidelberg Engineering, Dossenheim, Germany), optical coherence tomography (StratusOCT; Carl Zeiss Meditec, Inc., Dublin, CA), and scanning la...
journal_title：Investigative ophthalmology & visual science
pub_type： 杂志文章
doi：10.1167/iovs.05-1489
更新日期：2006-07-01 00:00:00
abstract：PURPOSE:An alteration in corneal innervation has been described in dry eye associated with diabetes mellitus, contact lens use, and LASIK. The purpose of this study was to evaluate whether dry eye not related to Sjögren's syndrome (NSDE) and dry eye related to primary Sjögren's syndrome (PSDE) are associated with an al...
journal_title：Investigative ophthalmology & visual science
pub_type： 杂志文章
doi：10.1167/iovs.06-0127
更新日期：2007-01-01 00:00:00
abstract：:Collagen deposition is largely responsible for scar information, an undesirable outcome of glaucoma filtering surgery. Because interferon-gamma (IFN-gamma) has been reported to inhibit collagen synthesis in a variety of cells, the authors examined its effect on collagen synthesis by Tenon's capsule fibroblasts culture...
journal_title：Investigative ophthalmology & visual science
pub_type： 杂志文章
doi：
更新日期：1991-10-01 00:00:00
abstract：:Although the lens has been shown to have the capacity to respond to insulin in vitro, little is known concerning the biochemical relationships of insulin to the lens in vivo. Therefore we have measured insulin in the aqueous humor of rabbits by a sensitive radioimmunoassay after paracentesis and feeding. The insulin c...
journal_title：Investigative ophthalmology & visual science
pub_type： 杂志文章
doi：
更新日期：1980-12-01 00:00:00
abstract：Purpose:The purpose of this study was to describe the cellular architecture of normal human peripapillary sclera (PPS) and evaluate surface topography's role in fibroblast behavior. Methods:PPS cryosections from nonglaucomatous eyes were labelled for nuclei, fibrillar actin (FA), and alpha smooth muscle actin (αSMA) a...
journal_title：Investigative ophthalmology & visual science
pub_type： 杂志文章
doi：10.1167/iovs.62.1.27
更新日期：2021-01-04 00:00:00
abstract：PURPOSE:Lenses from selenite-treated animals develop reversible "cold cataract" at a lower temperature than is required for lenses from age-matched control animals. This unexplained, stabilized phase transition is readily observed in intact lenses 36 to 48 hours after treatment and occurs in lenses before the appearanc...
journal_title：Investigative ophthalmology & visual science
pub_type： 杂志文章
doi：
更新日期：1995-04-01 00:00:00
abstract：PURPOSE:To assess the retinal macrophage response to cannulation of the anterior chamber (AC) and acute elevation of intraocular pressure (IOP) in adult mice. METHODS:Eyes from 12-month-old C57BL/6J WT mice were subject to IOP increase (50 mm Hg for 30 minutes) by direct cannulation of the AC. Fellow eyes were either ...
journal_title：Investigative ophthalmology & visual science
pub_type： 杂志文章
doi：10.1167/iovs.13-11865
更新日期：2013-04-30 00:00:00
abstract：PURPOSE:To determine the intergrader reproducibility for computer-assisted grading of optical coherence tomography (OCT) images in eyes with neovascular age-related macular degeneration (AMD), by using a standardized grading procedure. METHODS:Sixty OCT image sets (of six radial lines each) were independently analyzed...
journal_title：Investigative ophthalmology & visual science
pub_type： 杂志文章
doi：10.1167/iovs.07-0179
更新日期：2007-09-01 00:00:00
abstract：PURPOSE:To investigate the potential use of amniotic membrane transplantation (AMT) in the construction of glaucoma filtering blebs. METHODS:Twenty-four albino rabbits underwent glaucoma filtration surgery in one eye. In alternate cases, the conjunctival flap was replaced with AMT. Postoperative examination data were ...
journal_title：Investigative ophthalmology & visual science
pub_type： 杂志文章
doi：
更新日期：2001-07-01 00:00:00
abstract：:We use a population balance model to study the mechanism and the rate of centripetal migration of epithelial cells, renewal of the corneal epithelial population by the cell derived from (progeny of) the limbal stem cells and the kinetics of the replacement of the donor corneal epithelium. The epithelial mass is consta...
journal_title：Investigative ophthalmology & visual science
pub_type： 杂志文章
doi：
更新日期：1989-09-01 00:00:00
abstract：:Axonal transport studies were undertaken to determine the effect of chronic demyelination on axonal function in experimental allergic optic neuritis in the guinea pig, an animal model for multiple sclerosis. Fast and slow components of axonal transport over the prelaminar, laminar, and retrolaminar portions of the opt...
journal_title：Investigative ophthalmology & visual science
pub_type： 杂志文章
doi：
更新日期：1981-10-01 00:00:00
abstract：Purpose:Geographic atrophy (GA) is the late stage of non-neovascular age-related macular degeneration. A lack of animal models for GA has hampered treatment efforts. Presented herein is a rat model for GA using subretinal injection of sodium iodate (NaIO3). Methods:Rats were given subretinal injections of NaIO3 (5 μg/...
journal_title：Investigative ophthalmology & visual science
pub_type： 杂志文章
doi：10.1167/iovs.18-24245
更新日期：2018-03-20 00:00:00
abstract：PURPOSE:To identify the mutation leading to syndromic choroideremia (CHM) in two families and to define fundus autofluorescence (FAF) in CHM carriers. METHODS:The ophthalmic and clinical phenotype was investigated including FAF, neuropediatric, otorhinolaryngologic, cardiologic, and nephrologic examinations of three m...
journal_title：Investigative ophthalmology & visual science
pub_type： 杂志文章
doi：10.1167/iovs.08-2044
更新日期：2008-09-01 00:00:00
abstract：Purpose:To analyze the anti-inflammatory and antioxidative effects of Camellia japonica (CJ) on human corneal epithelial (HCE) cells and its therapeutic effects in a mouse model of experimental dry eye (EDE). Methods:Camellia japonica extracts of varying concentrations (0.001%, 0.01%, and 0.1%) were used to treat HCE ...
journal_title：Investigative ophthalmology & visual science
pub_type： 杂志文章
doi：10.1167/iovs.16-20634
更新日期：2017-02-01 00:00:00
abstract：PURPOSE:Mutations in the mitochondrial dynamin-related GTPase OPA1 cause autosomal dominant optic atrophy (ADOA), but the pathophysiology of this disease is unknown. As a first step in functional studies, this study was conducted to evaluate the expression of Opa1 in whole retina and in isolated retinal ganglion cells ...
journal_title：Investigative ophthalmology & visual science
pub_type： 杂志文章
doi：10.1167/iovs.03-1407
更新日期：2005-11-01 00:00:00
abstract：Purpose:To evaluate the relationship between refractive error, circadian phase, and melatonin with consideration of prior light exposure, physical activity, and sleep. Methods:Healthy young myopic (spherical equivalent refraction [SER] ≤-0.50DS) and emmetropic adults underwent noncycloplegic autorefraction and axial l...
journal_title：Investigative ophthalmology & visual science
pub_type： 杂志文章
doi：10.1167/iovs.61.8.45
更新日期：2020-07-01 00:00:00
abstract：PURPOSE:To ablate retina and vitreous membranes using the 193-nm argon fluoride excimer laser in a fluid medium. METHODS:A special delivery system for the 193-nm excimer laser was developed that enabled the delivery of the laser into high-absorption liquid environments. The system was tested on the retina in an in vit...
journal_title：Investigative ophthalmology & visual science
pub_type： 杂志文章
doi：
更新日期：1994-10-01 00:00:00
abstract：Purpose:Mutations in the retinitis pigmentosa-1-like-1 (RP1L1) gene are the major cause of autosomal dominant occult macular dystrophy (OCMD), while recessive mutations have been linked to autosomal recessive retinitis pigmentosa (arRP). We present the clinical phenotype of a large German OCMD cohort, as well as four R...
journal_title：Investigative ophthalmology & visual science
pub_type： 杂志文章
doi：10.1167/iovs.18-24033
更新日期：2018-06-01 00:00:00
abstract：Purpose:To validate widefield autofluorescence (AF) in vivo imaging of the retina in mice expressing green fluorescent protein (gfp) in microglia, and to monitor retinal microglia reconstitution in vivo after lethal irradiation and bone marrow transplantation. Methods:Transgenic Cx3cr1gfp/gfp and wildtype Balb/c mice ...
journal_title：Investigative ophthalmology & visual science
pub_type： 杂志文章
doi：10.1167/iovs.16-20916
更新日期：2017-04-01 00:00:00
abstract：PURPOSE:We sought to determine whether conjunctival ultraviolet autofluorescence (UVAF), a biomarker of outdoor light exposure, is associated with myopia. METHODS:We performed a cross-sectional study on Norfolk Island and recruited individuals aged ≥ 15 years. Participants completed a sun-exposure questionnaire and un...
journal_title：Investigative ophthalmology & visual science
pub_type： 杂志文章
doi：10.1167/iovs.11-8677
更新日期：2012-07-01 00:00:00
abstract：:The authors investigated the mechanisms underlying the head shaking shown by some patients with congenital nystagmus (CN). In order to improve visual function by head shaking, a patient with CN must have some visual acuity loss due to retinal image motion created by the nystagmus; an abnormal vestibulo-ocular reflex (...
journal_title：Investigative ophthalmology & visual science
pub_type： 杂志文章
doi：
更新日期：1985-08-01 00:00:00
abstract：PURPOSE:To identify the prognostic value of extraocular extension in enucleated uveal melanoma (UM) patients and to correlate extraocular extension to chromosomal aberrations, metastasis-free survival (MFS), and clinico-histopathological risk factors. METHODS:Retrospective study of patients with UM treated with enucle...
journal_title：Investigative ophthalmology & visual science
pub_type： 杂志文章
doi：10.1167/iovs.13-13670
更新日期：2014-03-04 00:00:00
abstract：PURPOSE:The authors investigated whether trigeminal sensitization occurs in response to bright light with the retina disconnected from the rest of the central nervous system by optic nerve section. METHODS:In urethane-anesthetized rats, trigeminal reflex blinks were evoked with air puff stimuli directed at the cornea ...
journal_title：Investigative ophthalmology & visual science
pub_type： 杂志文章
doi：10.1167/iovs.11-7604
更新日期：2011-10-04 00:00:00
abstract：Purpose:To identify potentially pathogenic variants (PPVs) in Chinese familial exudative vitreoretinopathy (FEVR) patients in FZD4, LRP5, NDP, TSPAN12, ZNF408, and KIF11 genes. Methods:Blood samples were collected from probands and their parent(s). Genomic DNA was analyzed by next-generation sequencing, and the sequen...
journal_title：Investigative ophthalmology & visual science
pub_type： 杂志文章
doi：10.1167/iovs.17-23541
更新日期：2018-11-01 00:00:00
abstract：Purpose:High myopia (HM) is defined as a refractive error worse than -6.00 diopter (D). This study aims to update the phenotypic and genotypic landscape of nonsyndromic HM and to establish a biological link between the phenotypic traits and genetic deficiencies. Methods:A cross-sectional study involving 731 participan...
journal_title：Investigative ophthalmology & visual science
pub_type： 杂志文章
doi：10.1167/iovs.19-27921
更新日期：2019-09-03 00:00:00
abstract：PURPOSE:Hyperreflective foci (HFs) are observable within the neurosensory retina in diabetic macular edema (DME) using spectral domain optical coherence tomography (SD-OCT). HFs have also been seen in wet age-related macular degeneration (AMD), although the origin is still unknown; however, they reduced significantly d...
journal_title：Investigative ophthalmology & visual science
pub_type： 杂志文章
doi：10.1167/iovs.12-9950
更新日期：2012-08-24 00:00:00
abstract：PURPOSE:Hypoxia and growth factors are postulated to be involved in the development of retinal neovascularization through the regulation of extracellular proteinase production. It has been shown that matrix metalloproteinases (MMPs) are elevated in the retina during the neovascularization process. However, the factors ...
journal_title：Investigative ophthalmology & visual science
pub_type： 杂志文章
doi：
更新日期：2002-01-01 00:00:00
